Canonical Allele Identifier: CA2323500012

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649953A= , CM000681.2:g.12649953A=	GRCh38
NC_000019.9:g.12760767A= , CM000681.1:g.12760767A=	GRCh37
NC_000019.8:g.12621767A=	NCBI36
NG_008318.1:g.21825T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2227T= MANE Select	ENSP00000395473.2:p.Phe743=
ENST00000221363.8:c.2224T=	ENSP00000221363.4:p.Phe742=
ENST00000456935.6:c.2227T=	ENSP00000395473.2:p.Phe743=
ENST00000466794.5:n.2817T=
NM_000528.3:c.2227T=	NP_000519.2:p.Phe743=
NM_001173498.1:c.2224T=	NP_001166969.1:p.Phe742=
XM_005259913.1:c.2230T=	XP_005259970.1:p.Phe744=
XM_011528017.1:c.1126T=	XP_011526319.1:p.Phe376=
XM_005259913.2:c.2230T=	XP_005259970.1:p.Phe744=
XM_024451518.1:c.1126T=	XP_024307286.1:p.Phe376=
NM_000528.4:c.2227T= MANE Select	NP_000519.2:p.Phe743=
NM_001173498.2:c.2224T=	NP_001166969.1:p.Phe742=